NUP205

nucleoporin 205

Summary

This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]

Known Variants412 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs62479496	7:135,242,451	A/G	—	benign
rs80096124	7:135,242,688	C/T	—	benign
rs769065044	7:135,242,697	C/G	—	uncertain significance
rs73158973	7:135,242,703	C/T	—	likely benign
rs2486065078	7:135,242,717	T/A	—	uncertain significance
rs751534580	7:135,242,734	G/C	—	likely benign
rs117892953	7:135,242,747	C/T	—	likely benign
rs6961420	7:135,242,910	C/T	—	benign
rs11763242	7:135,242,973	T/G	—	benign
rs73158974	7:135,243,012	A/G	—	likely benign
rs560449472	7:135,255,587	T/A	—	benign
rs115498909	7:135,255,826	G/A	—	benign
rs776683835	7:135,255,861	C/G	—	uncertain significance
rs908581728	7:135,255,881	C/T	—	likely benign
rs371826006	7:135,255,899	A/G	—	likely benign
rs142893035	7:135,255,936	C/T	—	uncertain significance
rs376170020	7:135,255,977	C/T	—	likely benign
rs369458508	7:135,255,994	C/T	—	uncertain significance
rs76038385	7:135,256,046	C/T	—	benign
rs141765692	7:135,256,054	G/C	—	likely benign
rs74661631	7:135,256,116	C/A	—	likely benign
rs76337543	7:135,256,222	C/T	—	benign
rs73725133	7:135,258,261	G/C	—	likely benign
rs150567613	7:135,258,419	G/C	—	uncertain significance
rs771752292	7:135,258,452	A/C	—	likely benign
rs139496320	7:135,258,455	C/T	—	likely benign
rs148613242	7:135,258,511	C/G	—	conflicting classifications of pathogenicity
rs780340598	7:135,258,537	A/G	—	uncertain significance
rs561298272	7:135,258,563	T/G	—	likely benign
rs76315574	7:135,258,678	C/A	—	benign
rs77463030	7:135,258,770	G/T	—	benign
rs79697712	7:135,258,855	A/G	—	benign
rs12539427	7:135,261,009	C/G	—	likely benign
rs1806151750	7:135,261,122	A/T	—	uncertain significance
rs745673163	7:135,261,135	G/A	—	uncertain significance
rs138776220	7:135,261,167	T/C	—	conflicting classifications of pathogenicity
rs141719180	7:135,261,177	C/T	—	benign
rs79189819	7:135,261,330	T/C	—	benign
rs73725137	7:135,261,689	G/A	—	benign
rs150542529	7:135,261,718	C/T	—	conflicting classifications of pathogenicity
rs1223721865	7:135,261,723	G/A	—	likely benign
rs752649047	7:135,261,742	C/T	—	uncertain significance
rs2486103374	7:135,261,776	C/T	—	uncertain significance
rs372918634	7:135,261,780	T/C	—	likely benign
rs571627058	7:135,261,807	T/G	—	uncertain significance
rs778448630	7:135,261,823	T/G	—	uncertain significance
rs61751960	7:135,261,834	A/G	—	likely benign
rs1806172745	7:135,261,838	C/T	—	uncertain significance
rs1806172992	7:135,261,843	G/C	—	uncertain significance
rs144379451	7:135,261,845	G/A	—	uncertain significance
rs2486103634	7:135,261,848	G/T	—	uncertain significance
rs61756075	7:135,261,874	G/C	—	uncertain significance
rs74861260	7:135,261,888	A/G	—	benign
rs115215165	7:135,262,329	T/C	—	benign
rs201710625	7:135,262,530	G/A	—	likely benign
rs10252250	7:135,262,533	T/C	—	benign
rs1806192314	7:135,262,565	T/C	—	uncertain significance
rs61756076	7:135,262,576	T/C	—	likely benign
rs758351135	7:135,262,585	A/G	—	likely benign
rs957285062	7:135,262,644	T/C	—	uncertain significance
rs769116129	7:135,262,665	C/A	—	uncertain significance
rs12707242	7:135,262,681	T/C	—	likely benign
rs116171760	7:135,262,684	A/G	—	likely benign
rs2486105220	7:135,262,688	G/C	—	uncertain significance
rs756688385	7:135,262,713	T/C	—	uncertain significance
rs767119190	7:135,262,716	C/T	—	uncertain significance
rs2486105405	7:135,262,778	G/T	—	uncertain significance
rs140087011	7:135,262,786	T/A	—	likely benign
rs2486106985	7:135,263,542	T/A	—	likely benign
rs545639998	7:135,263,559	G/A	—	uncertain significance
rs767444387	7:135,263,595	T/A	—	uncertain significance
rs746488337	7:135,263,621	G/T	—	uncertain significance
rs753066141	7:135,263,623	G/A	—	likely benign
rs2486107265	7:135,263,651	C/T	—	uncertain significance
rs73725145	7:135,263,735	A/G	—	benign
rs57264139	7:135,263,932	C/T	—	benign
rs548945504	7:135,269,582	C/T	—	likely benign
rs1806410758	7:135,269,584	G/A	—	likely benign
rs371440427	7:135,269,590	A/T	—	uncertain significance
rs139502310	7:135,269,610	C/T	—	uncertain significance
rs780296337	7:135,269,623	C/G	—	likely benign
rs144217755	7:135,269,638	C/T	—	likely benign
rs58392569	7:135,269,655	T/C	—	benign
rs61459701	7:135,269,656	G/A	—	benign
rs146516345	7:135,269,668	G/T	—	likely benign
rs188810212	7:135,269,706	G/T	—	uncertain significance
rs920157704	7:135,269,745	T/C	—	uncertain significance
rs79480542	7:135,269,837	T/C	—	benign
rs10271506	7:135,272,270	T/C	—	benign
rs115575362	7:135,272,307	C/G	—	likely benign
rs550081963	7:135,272,328	A/G	—	benign
rs747106524	7:135,272,339	A/G	—	uncertain significance
rs1450380302	7:135,272,341	C/T	—	uncertain significance
rs1806506825	7:135,272,396	C/T	—	uncertain significance
rs372271921	7:135,272,459	A/G	—	likely benign
rs6968195	7:135,272,469	C/G	—	likely benign
rs141632326	7:135,272,608	C/T	—	likely benign
rs1489921860	7:135,272,628	C/G	—	uncertain significance
rs1315851298	7:135,272,650	A/G	—	likely benign
rs764282063	7:135,272,713	G/A	—	likely benign

Showing 100 of 412 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.